Varaico: Literature-Extracted Genetic Variants

Gene:TGFBRAP1
Variant:p.Y444N
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TGFBRAP1

NM_004257.6:p.Y444N

Associated Papers

Point mutations of the mitochondrial chaperone TRAP1 affect its functions and pro-neoplastic activity.

Laquatra C et al.

Cell Death & Disease, 2025

40074754 (PubMed )
Supplement: 41419_2025_7467_MOESM7_ESM.xlsx › TRAP1-simple_mode

Mitochondrial chaperon TNF-receptor- associated protein 1 as a novel apoptotic regulator conferring susceptibility to Pneumocystis jirovecii pneumonia.

Amali AA et al.

Frontiers in Immunology, 2024

Over-Mutated Mitochondrial, Lysosomal and TFEB-Regulated Genes in Parkinson's Disease.

Segur-Bailach E et al.

Journal of Clinical Medicine, 2022

35330074 (PubMed )
Supplement: jcm-11-01749-s001.zip › Supl_Table_S2.pdf

TRAP1 chaperone protein mutations and autoinflammation.

Standing AS et al.

Life Science Alliance, 2020

Precision Health Resource of Control iPSC Lines for Versatile Multilineage Differentiation.

Hildebrandt MR et al.

Stem Cell Reports, 2019

31813827 (PubMed )
Supplement: mmc3.xlsx › SNVs

Clinical impact of a targeted next-generation sequencing gene panel for autoinflammation and vasculitis.

Omoyinmi E et al.

Plos One, 2017

Hurt, tired and queasy: Specific variants in the ATPase domain of the TRAP1 mitochondrial chaperone are associated with common, chronic "functional" symptomatology including pain, fatigue and gastrointestinal dysmotility.

Boles RG et al.

Mitochondrion, 2015

Whole-exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL association.

Saisawat P et al.

Kidney International, 2014

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."